ClinVar Miner

List of variants in gene CACNB2 reported as benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.1701C>T (p.Tyr567=) rs2228645 0.19212
NM_201596.3(CACNB2):c.1965T>G (p.Asp655Glu) rs58225473 0.14908
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=) rs34813638 0.01090
NM_201596.3(CACNB2):c.1785C>T (p.His595=) rs61733967 0.00879
NM_201596.3(CACNB2):c.993G>A (p.Ser331=) rs76956014 0.00852
NM_201596.3(CACNB2):c.1794T>C (p.Ser598=) rs34503140 0.00787
NM_201596.3(CACNB2):c.1293G>A (p.Gln431=) rs148414498 0.00093
NM_201596.3(CACNB2):c.634G>C (p.Val212Leu) rs149167651 0.00019
NM_201596.3(CACNB2):c.1522G>A (p.Ala508Thr) rs759958799 0.00003
NM_201596.3(CACNB2):c.805-4G>A rs200654601 0.00001
NM_201596.3(CACNB2):c.1670C>G (p.Ser557Trp) rs137886839
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) rs61733968

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.